Variant DetailsVariant: esv3579959 | Internal ID | 18708157 | | Landmark | | | Location Information | | | Cytoband | 11q24.3 | | Allele length | | Assembly | Allele length | | hg38 | 9710 | | hg19 | 9710 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv422e212 | | Supporting Variants | essv9799129, essv9799130, essv9799142, essv9799125, essv9799143, essv9799116, essv9799139, essv9799131, essv9799128, essv9799153, essv9799127, essv9799135, essv9799150, essv9799141, essv9799137, essv9799126, essv9799149, essv9799146, essv9799115, essv9799147, essv9799117, essv9799120, essv9799136, essv9799134, essv9799138, essv9799140, essv9799151, essv9799148, essv9799118, essv9799145, essv9799123, essv9799132, essv9799119, essv9799121, essv9799124, essv9799152 | | Samples | 401474CE, 401221LD, 401005BL, 401384BP, 400059SV, 401674DD, 401536BD, 401253MC, 401258PC, 400674CA, 400066MA, 400526DR, 400356MC, 400374LB, 400653GP, 401997HB, 401238QR, 400198MD, 401192MJ, 400983PV, 401725MR, 401477ST, 401623SN, 401606CG, 400135DR, 401844ZD, 401881TJ, 402051AF, 400267GD, 400044HS, 400106PC, 401105WS, 401266HM, 400835FD, 400266BA, 401066MM | | Known Genes | | | Method | SNP array | | Analysis | We used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection. | | Platform | Affymetrix CytoScan HD 2.7M array | | Comments | | | Reference | Uddin_et_al_2014 | | Pubmed ID | 25503493 | | Accession Number(s) | esv3579959
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 36 | | Observed Complex | 0 | | Frequency | n/a |
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